chr21:33034892:G>A Detail (hg19) (SOD1)

Information

Genome

Assembly Position
hg19 chr21:33,034,892-33,034,892
hg38 chr21:31,662,579-31,662,579 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000454.4:c.73-1211G>A
Ensemble ENST00000270142.11:c.73-1211G>A
ENST00000389995.4:c.16-1211G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.517
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 147450 OMIM
HGNC 11179 HGNC
Ensembl ENSG00000142168 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv64843735 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 colorectal cancer A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
<0.001 ovarian carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.006 colorectal carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.004 ovarian carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.010 Malignant neoplasm of ovary A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
<0.001 Malignant neoplasm of ovary A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
<0.001 ovarian carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.002 colorectal carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.004 colorectal carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.017 colorectal cancer A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.003 colorectal carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.003 Malignant neoplasm of ovary A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.005 colorectal cancer A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.001 Malignant neoplasm of ovary A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.007 stomach carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.001 ovarian carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.006 colorectal carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.008 colorectal cancer A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.013 colorectal cancer A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
Annotation

Annotations

DescrptionSourceLinks
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4998557 dbSNP
Genome
hg19
Position
chr21:33,034,892-33,034,892
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs4998557
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.517
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8665
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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